P20L (p.Pro20Leu) variant of KMT2D (O14686)
P20L (p.Pro20Leu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- TOPMed rs963025174
- gnomAD rs963025174
- Benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.32
- MetaLR 0.22
- MetaSVM -0.81
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Benign (Kabuki syndrome)
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available